Interstitial Lung Disease
Gene: RSPH9

RSPH9 (radial spoke head 9 homolog)
EnsemblGeneIds (GRCh38): ENSG00000172426
EnsemblGeneIds (GRCh37): ENSG00000172426
OMIM: 612648, Gene2Phenotype
RSPH9 is in 10 panels

2 reviews

Suzanna Lindsey-Temple (Liverpool Hospital)

Green List (high evidence)

Agree with other reviewer - at least 5 unrelated families reported.
Created: 5 Nov 2021, 7:42 a.m. | Last Modified: 5 Nov 2021, 7:42 a.m.

Panel Version: 0.183

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Primary ciliary dyskinesia

Publications

PMID: 19200523
23993197

Created: 5 Nov 2021, 7:42 a.m.
Last Modified: 5 Nov 2021, 7:42 a.m.
Panel version: 0.183

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

At least 5 PCD families reported (PMID: 25789548)

PMID: 31285900: Reported same splice variant in 2 apparently unrelated families from Cyprus
Created: 6 May 2020, 3:59 a.m. | Last Modified: 6 May 2020, 3:59 a.m.

Panel Version: 0.45

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 12 (MIM#612650)

Publications

Created: 6 May 2020, 3:59 a.m.
Last Modified: 6 May 2020, 3:59 a.m.
Panel version: Imported from Ciliary Dyskinesia panel version 0.45

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Ciliary dyskinesia, primary, 12 (MIM#612650)

OMIM

612648

Clinvar variants

Variants in RSPH9

Penetrance

None

Publications

Panels with this gene